Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

Izumi, Kosuke; Kubota, Noriko; Arakawa, Michiko; Takayama, Masayoshi; Harada, Yukiko; Nakamura, Tomohiko; Nishi, Eriko; Hidaka, Eiko

doi:10.1002/ajmg.a.36921

Cited by 5 publications

(6 citation statements)

References 15 publications

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“…Also, abnormal karyotypes were seen in 34 cases with the reported genetic mutations [Aboura et al, 2002;Ounap et al, 2005;Velagaleti et al, 2005;Gerth-Kahlert et al, 2011;Davidson et al, 2012;Fukami et al, 2012;Izumi et al, 2012aIzumi et al, , 2015Basart et al, 2015;Capkova et al, 2017;Schoner et al, 2017]. Although all the 39 studies had assessed the genetic mutations associated with PRS, a few critical limitations were observed: All the studies were heterogeneous, and only 5 cohort studies that met the inclusion criteria were available for data analysis.…”

Section: Discussionmentioning

confidence: 99%

“…Although genetic mutations were reported in most of the studies, only 21 studies had assessed genetic mutations in the proband's family members to demonstrate familial inheritance [Melkoniemi et al, 2003;Ounap et al, 2005;Johnston et al, 2010;Gerth-Kahlert et al, 2011;Gripp et al, 2011;Izumi et al, 2012aIzumi et al, , 2015Amarillo et al, 2013;Ehmke et al, 2014;Suemori et al, 2014;Bacrot et al, 2015;Castori et al, 2016;Kohmoto et al, 2016;Xu et al, 2016;Capkova et al, 2017;Powis et al, 2017;Schoner et al, 2017;Sleiman et al, 2017;Yang et al, 2017;Højland et al, 2018;Knapp et al, 2019]. Yang et al [2017] reported genetic mutations in 3 members from a family with manifestations of nsPRS, while the family members without any clinical signs of nsPRS did not exhibit genetic mutations.…”

Section: Discussionmentioning

confidence: 99%

“…Castori et al [2016] reported a 3-generation familial inheritance of acampomelic/campomelic dysplasia char-DOI: 10.1159/000513217 acterized by PRS, bell-shaped thorax with 11 pairs of ribs, hypoplastic pedicles of the thoracic vertebrae and scapulae, narrow iliac bones, ossification delay of the pubis and cervical vertebrae, clubfeet, and bent long bones (i.e., campomelia). Izumi et al [2015] reported a nondisjunction event during oogenesis to have caused SMC syndrome due to gene dosage effects on the genes located in the supernumerary marker chromosome. The recessive inheritance model was reported by Slieman et al [2017] in Braddock-Carey syndrome which is characterized by microcephaly, congenital thrombocytopenia the Pierre-Robin sequence (PRS), and agenesis of the corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

“…Figure 1 summarizes the selection strategy employed in the qualitative analysis. Table 1 summarizes the data extracted from the studies included in the systematic review [Aboura et al, 2002;Ferreira de Lima et al, 2003;Melkoniemi et al, 2003;Ounap et al, 2005;Velagaleti et al, 2005;Jakobsen et al, 2007;Manzke et al, 2008;Johnston et al, 2010;Tanpaiboon et al, 2010;Gerth-Kahlert et al, 2011;Gripp et al, 2011;Nelson et al, 2011;Said et al, 2011;Sahoo et al, 2011;Davidson et al, 2012;Fukami et al, 2012;Izumi et al, 2012aIzumi et al, , 2015Amarillo et al, 2013;Zechi-Ceide et al, 2013;Ehmke et al, 2014;Suemori et al, 2014;Takenouchi et al, 2014;Utami et al, 2014;Bacrot et al, 2015;Basart et al, 2015;Smyk et al, 2015;Braddock et al, 2016;Castori et al, 2016;Kohmoto et al, 2016;Xu et al, 2016;Capkova et al, 2017;Powis et al, 2017;Schoner et al, 2017;Sleiman et al, 2017;Yang et al, 2017;…”

Section: Study Selectionmentioning

confidence: 99%

“…Of the 39 included articles, 11 were from the United States of America [Velagaleti et al, 2005;Gripp et al, 2011;Nelson et al, 2011;Sahoo et al, 2011;Davidson et al, 2012;Izumi et al, 2012a;Amarillo et al, 2013;Smyk et al, 2015;Braddock et al, 2016;Powis et al, 2017;Sleiman et al, 2017], 5 from Japan [Fukami et al, 2012;Suemori et al, 2014;Takenouchi et al, 2014;Izumi et al, 2015;Kohmoto et al, 2016], 5 from Germany [Ounap et al, 2005;Manzke et al, 2008;Gerth-Kahlert et al, 2011;Ehmke et al, 2014;Schoner et al, 2017], 2 from France [Aboura et al, 2002;Bacrot et al, 2015], 2 from Brazil [Ferreira de Lima et al, 2003;Zechi-Ceide et al, 2013], 2 from Italy [Castori et al, 2016;Roberti et al, 2018], 2 from Denmark [Jakobsen et al, 2007;Højland et al, 2018], 1 each from Belgium [Said et al, 2011], Singapore [Utami et al, 2014], Netherlands [Basart et al, 2015], China [Yang et al, 2017], Finland [Melkoniemi et al, 2003], Thailand [Tanpaiboon et al, 2010], Czech Republic [Capkova et al, 2017], New Zealand [Knapp et al, 2019], Canada…”

Section: Study Characteristicsmentioning

confidence: 99%

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Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review

Varadarajan

Balaji²,

Raj

et al. 2021

Mol Syndromol

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Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: “Pierre Robin syndrome/sequence AND gene mutation.” The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Study Selectionmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

See 3 more Smart Citations

Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review

Varadarajan

Balaji²,

Raj

et al. 2021

Mol Syndromol

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Genetics of Pierre Robin Syndrome/Sequence

Augustine

Sowmya

Haragannavar

et al. 2022

Encyclopedia of Life Sciences

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The triad of congenital micrognathia, glossoptosis and upper airway obstruction observed in Pierre Robin Syndrome (PRS) is displayed in three different forms. A bibliographic search was done in the PubMed database with keywords Pierre Robin syndrome/sequence and genetic mutations. English literature published from 2015 to 2021 specifically to the genetic associations with PRS were included and were subsequently discussed in the following subsections: (1) Case reports, (2) Case series, (3) Cohort studies and (4) Animal models. The genes involved in the human syndromic PRS phenotypes as reported in the Online Mendelian Inheritance in Man (OMIM) and the Monarch Initiative were done. The mutations reported in syndromic cases are more specific to the syndrome in comparison to isolated cases. The involvement of transcription factor SOX9 is known to be strongly associated with PRS phenotype. The technologies can detect these mutations efficiently and help in the diagnostic approach. Key Concepts Diverse mutations are reported in PRS. Newer technologies can detect these mutations efficiently. Identifying genetic mutations aid in genetic counselling. Transcription factor SOX9 is strongly associated with PRS phenotype. A comprehensive workup is required to diagnose PRS.

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Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

Gomez‐Ospina

Bernstein

2016

American J of Med Genetics Pt A

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Pierre Robin sequence (PRS) is an important craniofacial anomaly that can be seen as an isolated finding or manifestation of multiple syndromes. 22q11.2 deletion and Stickler syndrome are cited as the two most common conditions associated with PRS, but their frequencies are debated. We performed a retrospective study of 66 patients with PRS and reviewed their genetic testing, diagnoses, and clinical findings. The case series is complemented by a comprehensive literature review of the nature and frequency of genetic diagnosis in PRS. In our cohort 65% of patients had associated anomalies; of these, a genetic diagnosis was established in 56%. Stickler syndrome was the most common diagnosis, comprising approximately 11% of all cases, followed by Treacher Collins syndrome (9%). The frequency of 22q11.2 deletion was 1.5%. Chromosome arrays, performed for 72% of idiopathic PRS with associated anomalies, revealed two cases of 18q22→qter deletion, a region not previously reported in association with PRS. A review of the cytogenetic anomalies identified in this population supports an association between the 4q33-qter, 17q24.3, 2q33.1, and 11q23 chromosomal loci and PRS. We found a low frequency of 22q11.2 deletion in PRS, suggesting it is less commonly implicated in this malformation. Our data also indicate a higher frequency of cytogenetic anomalies in PRS patients with associated anomalies, and a potential new link with the 18q22→qter locus. The present findings underscore the utility of chromosomal microarrays in cases of PRS with associated anomalies and suggest that delaying testing for apparently isolated cases should be considered.

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Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

Cited by 5 publications

References 15 publications

Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review

Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review

Genetics of Pierre Robin Syndrome/Sequence

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

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